Retarded Motor Development Research Articles

PROTOCOL: Predictors of youth gang membership in low‐ and middle‐income countries: A systematic review

BACKGROUND The Problem There is evidence of gang violence in low- and middle-income countries in Africa and Asia, and the prevalence of gangs is particularly well documented throughout Central and South America (Decker & Pyrooz, 2010; Gatti et al., 2011). Official estimates of gang membership in Central America estimate approximately 69,000 members, while academic estimates believe this figure to be closer to 200,000 (UNODC, 2007). Some estimates are as high as 500,000 gang members in the region including South America and the Caribbean, and gangs have been identified as “the primary threat to regional stability and security” (Muggah & Aguirre, 2013). While reporting and recording issues make it difficult to estimate rates of gang violence, the homicide rate in Colombia, Brazil, El Salvador and Guatemala are substantially higher than those of European and North American countries (Decker & Pyrooz, 2010; UNODC, 2007). Gangs are also active in South Africa, with an estimate of 100,000 members in Western Cape alone (Reckson & Becker, cited in Decker & Pyrooz, 2010); however, to date, there is limited research examining gangs in Africa and Asia...

Intraoperative Computed Tomography for Cervicomedullary Decompression of Foramen Magnum Stenosis in Achondroplasia: Two Case Reports

The authors report two cases of cervicomedullary decompression of foramen magnum (FM) stenosis in children with achondroplasia using intraoperative computed tomography (iCT). A 14-month-old girl with myelopathy and retarded motor development, and a 10-year-old girl who had already undergone incomplete FM decompression was presented with myelopathy. Both patients underwent decompressive sub-occipitalcraniectomy and C1 laminectomy without duraplasty using iCT. It clearly showed the extent of FM decompression during surgery, which finally enabled sufficient decompression. After the operation, their myelopathy improved. We think that iCT can provide useful information and guidance for sufficient decompression for FM stenosis in children with achondroplasia.

Merosin缺陷性先天性肌营养不良的临床特征及其MRI特点(附1例报道)

目的：探讨Merosin缺陷性先天性肌营养不良的临床特征和头颅MRI特点。方法：通过回顾性分析我国报道Merosin缺陷性先天性肌营养不良临床资料，总结Merosin缺陷性先天性肌营养不良的临床特征和MRI特点。结果：8例Merosin缺陷性先天性肌营养不良，男4例，女4例。发病年龄都在出生后6个月内，主要临床表现为运动发育迟缓，肌无力，无眼部病变。肌酸肌酶(CK)显著升高。肌电图检查示肌源性损害。肌肉免疫组化示merosin染色阴性，α、β抗肌萎缩相关糖蛋白染色阳性。8例患儿头颅MRI检查示双侧大脑半球白质对称性异常信号，呈T1低信号，T2呈高信号。结论：Merosin缺陷性先天性肌营养不良主要根据先天性肌张力低下、肌无力临床表现，CK显著升高，脑白质异常信号和肌肉活检免疫组化merosin染色阴性明确诊断。 Objective: To explore the clinical and MRI features of Merosin-deficient congenital muscular dystrophy type 1A(MDC1A). Methods: The data of clinic and MRI of MDC1A(n = 8) reported in china were analyzed retrospectively. Results: Of the 8 cases, there were four males and four females. All cases presented with motor development retardation, muscular weakness and severe hypotonia within the first 6 months since birth, but without eye abnormalities. The levels of serum creatine kinase (CK) were elevated markedly. Electromyography suggested a myogenic damage process. Immunohistochemical studies of muscle biopsies for merosin were negative, and the ones for alpha, beta-dystroglycan were positive. The main MRI findings of MDC1A(n = 8) were observed as follows: symmetrical white matter abnormalities with hyperintensity on MRI T2 weighted and hypointensity on MRI T1 weighted. Conclusion: The diagnosis of MDC1Ais based on the clinical findings of severe congenital hypotonia, weakness with high blood levels of creatine kinase, white matter abnormalities, and dystrophy associated with negative immunostaining of biopsied muscle for merosin.

Anesthetic management of an adolescent with Dandy-Walker syndrome

Dandy-Walker syndrome is classically described as a neuropathological triad consisting of hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and hydrocephalus. Clinical manifestations of the syndrome usually appear in the first year of life, but can occur during the neonatal period. Asai et al. [1] reported that as many as 89% of patients are diagnosed before 1 year of age. However, in the absence of prenatal diagnosis, the symptoms usually become apparent in early infancy and include slow motor development, bulging anterior fontanel, and progressive enlargement of the skull. We report a rare case of anesthetic experience for an adolescent with Dandy-Walker syndrome. A 13-year-old, 140 cm, 29 kg, male adolescent who had been born prematurely at 28 weeks, weighing 850 g visited our urology for surgical treatment of scrotal hydrocele. The patient had mental retardation and general muscular dystrophy. Six months prior to admission, he had an episode of seizure with vomiting, and brain magnetic resonance imaging was performed. Magnetic resonance imaging showed a cyst in the posterior fossa, hypoplastic cerebellar hemispheres, and elevation of the hypoplastic cerebellar vermis due to the cyst (Fig. 1). He was diagnosed with Dandy-Walker syndrome. In the preoperative evaluation, he was found to have macrocephalus and micrognathia, which could render intubation difficult. He was also afflicted with general muscular dystrophy. During surgery, his vitals were monitored by electrocardiogram, pulse oximetry, noninvasive blood pressure (BP) monitoring, endtidal CO2, bispectral index (Aspect Medical Systems, Newton,

Motor training of sixty minutes once per week improves motor ability in children with congenital heart disease and retarded motor development: a pilot study

Delay and impairment of motor development is reported in patients with congenital heart disease. This pilot study addressed the feasibility and effect of a low-dose motor training programme of 60 min once per week on motor ability in preschool children with congenital heart disease. In all, 14 children--including four girls, in the age group of 4-6 years--with various types of congenital heart disease performed the motor developmental test MOT 4–6 before and after 3 months of a playful exercise programme of 60 min once a week. At baseline, the motor quotient ranged from normal to slightly impaired (median 92.0; Quartile 1: 83.75; Quartile 3: 101.25). After intervention, motor quotient did not change significantly for the entire group (95.0 (88.0, 102.5); p50.141). However, in the subgroup of nine children with retarded motor development at baseline (motor quotient lower 100), seven children had an improved motor quotient after 3 months of intervention. In this subgroup, motor quotient increased significantly (p50.020) by 5%. Overall, a short intervention programme of 60 min only once a week does not improve motor ability in all children with congenital heart disease. However, those with retarded motor development profit significantly from this low-dose intervention.

Psoriatic arthritis or could it be Singleton-Merten syndrome?

Aims To describe Singleton-Merten Syndrome as an unusual cause of arthritis associated with a psoriasiform rash. Methods Case report. Results We present this case of a girl who at 11 months suffered from discrete red scaly areas on the trunk, limbs and scalp. She was given a diagnosis of psoriasis which remained poorly controlled throughout childhood, despite phototherapy and methotrexate treatment. In infancy, slow gross motor development was noted and felt to be related to hypermobility. She also began complaining of morning stiffness and pain in her hands and knees. The ESR was slightly raised at 17 but all other investigations were negative including ANA, rheumatoid factor and HLA-B27. X-rays showed osteopenic bones but no joint erosion. A diagnosis of psoriatic arthritis was made and although wheelchair bound, she never had significant joint inflammation. Dental concerns also emerged with delayed eruption and very malformed teeth with short roots. She was of proportional short stature with height at the 3rd centile at 10 years. At 11 years a systolic murmur was first heard although she had no cardiac symptoms. An echocardiograph revealed a moderately stenosed valve which rapidly progressed with syncopal episodes 18 months later. At this point the ejection fraction was 21% and a computed tomography scan revealed calcification of the aortic arch to the transverse arch. She had an aortic root replacement with pulmonary autograft. Around this time, she had repeat X-rays which were felt to not be typical of psoriatic arthritis. Instead they showed acro-osteolysis with periarticular osteopaenia, and medullary widening. Subsequently given her other clinical features, Singleton-Merten Syndrome was diagnosed. Conclusions Singleton-Merten Syndrome is a rare autosomal dominant multisystem condition with less than 10 cases reported in the literature. It is thought to be due to abnormal calcium deposition although its genetic basis is not known. Manifestations include aortic valve calcification, osteoporosis with widened medullary cavities, muscle weakness, short stature, psoriasiform eruptions, glaucoma and dentin dysplasia. Rheumatologists commonly treat arthropathies and therefore although this is a rare cause we hope to highlight awareness of this syndrome.

Pathologic and Phenotypic Alterations in a Mouse Expressing a Connexin47 Missense Mutation That Causes Pelizaeus-Merzbacher–Like Disease in Humans

Gap junction channels are intercellular conduits that allow diffusional exchange of ions, second messengers, and metabolites. Human oligodendrocytes express the gap junction protein connexin47 (Cx47), which is encoded by the GJC2 gene. The autosomal recessive mutation hCx47M283T causes Pelizaeus-Merzbacher–like disease 1 (PMLD1), a progressive leukodystrophy characterized by hypomyelination, retarded motor development, nystagmus, and spasticity. We introduced the human missense mutation into the orthologous position of the mouse Gjc2 gene and inserted the mCx47M282T coding sequence into the mouse genome via homologous recombination in embryonic stem cells. Three-week-old homozygous Cx47M282T mice displayed impaired rotarod performance but unchanged open-field behavior. 10-15-day-old homozygous Cx47M282T and Cx47 null mice revealed a more than 80% reduction in the number of cells participating in glial networks after biocytin injections into oligodendrocytes in sections of corpus callosum. Homozygous expression of mCx47M282T resulted in reduced MBP expression and astrogliosis in the cerebellum of ten-day-old mice which could also be detected in Cx47 null mice of the same age. Three-month-old homozygous Cx47M282T mice exhibited neither altered open-field behavior nor impaired rotarod performance anymore. Adult mCx47M282T expressing mice did not show substantial myelin alterations, but homozygous Cx47M282T mice, additionally deprived of connexin32, which is also expressed in oligodendrocytes, died within six weeks after birth and displayed severe myelin defects accompanied by astrogliosis and activated microglia. These results strongly suggest that PMLD1 is caused by the loss of Cx47 channel function that results in impaired panglial coupling in white matter tissue.

Motor Development of Triplets: A Japanese Prospective Cohort Study

We analyzed whether motor development in early life is different between singletons and triplets in Japan. The motor development was reported by mothers by postal questionnaire for 1,121 triplet children and in regular health check-ups for 13,906 singleton children. Children who were suspected of having neurological abnormality or disability were excluded from the analysis. The ages of milestone achievements were significantly higher in triplets for each outcome compared to singletons. Further, after adjustment for gestational age, birthweight, and birth length, the differences were significant for maintaining head, sitting alone and standing holding on. In children with birthweight of 2 kg or more, the ages of milestone achievements were significantly higher in triplets for each outcome compared to singletons, except walking holding on. Moreover, after adjustment for the confounding factors, the differences were significant for sitting alone and walking independently. On the contrary, singletons attained motor development facilitating crawling, walking holding on, and walking independently slower than triplets among those children with birthweight of 2 kg or less after adjustment for gestational age. In conclusion, triplets are overall at higher risk for the delay of gross motor milestones as compared to singletons independently of birth-related factors. In contrast, among children with a birthweight of less than 2 kg, singletons showed slower motor development than triplets after adjusting for gestational age. There is an obvious need to apply developmental standards that consider at least both multiple birth status (singleton, twin or triplet) and birthweight.

Infant Motor Development Predicts Sports Participation at Age 14 Years: Northern Finland Birth Cohort of 1966

BackgroundMotor proficiency is positively associated with physical activity levels. The aim of this study is to investigate associations between the timing of infant motor development and subsequent sports participation during adolescence.MethodsProspective observational study. The study population consisted of 9,009 individuals from the Northern Finland Birth Cohort 1966. Motor development was assessed by parental report at age 1 year, using age at walking with support and age at standing unaided. At follow up aged 14 years, data were collected on the school grade awarded for physical education (PE). Self report was used to collect information on the frequency of sports participation and number of different sports reported.Principal FindingsEarlier infant motor development was associated with improved school PE grade, for age at walking supported (p<0.001) and standing unaided (p = <0.001). Earlier infant motor development, in terms of age at walking supported, was positively associated with the number of different sports reported (p = 0.003) and with a greater frequency of sports participation (p = 0.043). These associations were independent of gestational age and birth weight, as well as father's social class and body mass index at age 14 years.ConclusionsEarlier infant motor development may predict higher levels of physical activity as indicated by higher school PE grade, participation in a greater number of different types of sports and increased frequency of sports participation. Identification of young children with slower motor development may allow early targeted interventions to improve motor skills and thereby increase physical activity in later life.

Klinik, Diagnostik und Behandlungsoptionen des Usher-Syndroms

Usher syndrome denotes a clinically and genetically heterogeneous combination of retinitis pigmentosa and sensorineural deafness. The division into subtypes I, II, and III is based on the degree of hearing loss: Type I is characterized by deafness from birth together with ataxia and retarded motor development, type II by a stationary deafness of a moderate degree, and type III by a progressive deafness with adult onset. In Germany, Usher syndrome currently bears particular relevance because in January 2009 a new compulsory screening of auditory function in newborn infants was introduced. Consequently, it can be expected that a higher number of patients with Usher syndrome will be identified in early childhood and referred to ophthalmologists. The focus of this work is to introduce the typical clinical picture of Usher syndrome, summarize diagnostic options, and give an overview of therapeutic strategies.

Reproductive Toxicity: Too Much of a Good Thing?

Vol. 114, No. 10 EnvironewsOpen AccessReproductive Toxicity: Too Much of a Good Thing? Valerie J. Brown Valerie J. Brown Search for more papers by this author Published:1 October 2006https://doi.org/10.1289/ehp.114-a578aAboutSectionsPDF ToolsDownload CitationsTrack Citations ShareShare onFacebookTwitterLinked InReddit Pregnant women are famously exhorted to faithfully take their daily prenatal vitamins, which often contain iron and other minerals. But new research suggests that a weekly iron supplement coinciding with the renewal of the small intestine’s mucosal lining cells (where nutrient absorption occurs) works better than a daily supplement and prevents problems resulting from too much iron at the wrong times.Maternal iron deficiency and anemia early in gestation can result in premature birth and low birth weight. These, in turn, can trigger further problems ranging from slow physical growth and motor development to impaired emotional control. In severe cases, both maternal and fetal survival can be threatened at or near birth. Thus, there exists a near-global public health policy of maternal iron supplementation during pregnancy.The new study appears in the July 2006 issue of Archives of Medical Research. A team including nutritionist and epidemiologist Esther Casanueva of the National Institute of Perinatology Isidro Espinosa de los Reyes (INPerIER) in Mexico City and colleagues elsewhere in Mexico City and California studied 116 women receiving prenatal care at INPerIER. All had come to INPerIER for prenatal care by gestational week 20.None of the women were anemic at that point, but 66% had low levels of ferritin (the principal form of stored iron), suggesting low iron nutritional status. Half took 60 mg of iron as ferrous sulfate with 200 μg of folic acid and 1 μg of vitamin B12 once a day; the others took double this dose once a week. The researchers checked the women’s levels of hemoglobin (which transports oxygen) and ferritin every four weeks through the end of pregnancy.More of the women taking the weekly dose were mildly anemic (with hemoglobin levels shown not to carry any risk for mothers and infants) compared with the women taking the daily dose. However, by weeks 28 to 36, women taking the daily supplement had a significantly higher prevalence of hemoconcentration, a condition defined as hemoglobin levels above 145 g/L. Ironically, both early gestational iron-deficiency anemia and hemoconcentration later in pregnancy increase the risk of premature birth and low birth weight. Thus, the researchers suggest that excess iron supplementation can cause the same problems it is supposed to correct.Animal studies suggest that excess iron can also trigger formation of free radicals in the intestinal mucosa and other tissues, and that both iron deficiency and iron overload can damage nuclear DNA and mitochondrial DNA. This kind of damage has been implicated in cancer induction.The intestinal mucosa is renewed every 5 to 6 days and will absorb as much iron as necessary to maintain iron balance; however, mature cells will stop absorbing iron entirely if they are flooded with it, even if there is an iron deficit. “Maintaining a high iron environment in the intestine by ingesting significantly more iron than needed every day overwhelms this safety system,” says coauthor Fernando E. Viteri. A more subtly calibrated iron supplementation during pregnancy may be as effective as current public health recommendations, and perhaps safer.FiguresReferencesRelatedDetails Vol. 114, No. 10 October 2006Metrics About Article Metrics Publication History Originally published1 October 2006Published in print1 October 2006 Financial disclosuresPDF download License information EHP is an open-access journal published with support from the National Institute of Environmental Health Sciences, National Institutes of Health. All content is public domain unless otherwise noted. Note to readers with disabilities EHP strives to ensure that all journal content is accessible to all readers. However, some figures and Supplemental Material published in EHP articles may not conform to 508 standards due to the complexity of the information being presented. If you need assistance accessing journal content, please contact [email protected]. Our staff will work with you to assess and meet your accessibility needs within 3 working days.

Early motor development and later language and reading skills in children at risk of familial dyslexia

Relationships between early motor development and language and reading skills were studied in 154 children, of whom 75 had familial risk of dyslexia (37 females, 38 males; at-risk group) and 79 constituted a control group (32 females, 47 males). Motor development was assessed by a structured parental questionnaire during the child's first year of life. Vocabulary and inflectional morphology skills were used as early indicators of language skills at 3 years 6 months and 5 years or 5 years 6 months of age, and reading speed was used as a later indicator of reading skills at 7 years of age. The same subgroups as in our earlier study (in which the cluster analysis was described) were used in this study. The three subgroups of the control group were 'fast motor development', 'slow fine motor development', and 'slow gross motor development', and the two subgroups of the at-risk group were 'slow motor development' and 'fast motor development'. A significant difference was found between the development of expressive language skills. Children with familial risk of dyslexia and slow motor development had a smaller vocabulary with poorer inflectional skills than the other children. They were also slower in their reading speed at the end of the first grade at the age of 7 years. Two different associations are discussed, namely the connection between early motor development and language development, and the connection between early motor development and reading speed.

Descriptive study of the clinical and nutritional profile and follow-up of premature babies in a Kangaroo Mother Care Program

To describe the profile of premature newborns participating in the Kangaroo Mother Care Program and the data from follow-up, and to verify possible correlations between these descriptive data. A descriptive study of 70 children, 5-34 months old, born between April 1999 and 2002, with gestational age of 32.5 weeks, birth weight 1,560 g, participating in the Kangaroo Mother Care Program (modified for Brazil) for at least 3 days. They were discharged from Kangaroo Mother Care weighing around 3,000 g and followed-up to 1 year. Birth weight, gestational age and Apgar scores were determinants of better clinical, nutritional and motor outcomes as well as for enrollment on the Kangaroo Mother Care Program. During the second phase of the program 8.6% of the children were readmitted due to apnea. Exclusive breastfeeding started at a mean postconceptual age of 35.3 weeks and mean age postpartum of 18.6 days. By hospital discharge, children were at a mean age of 29 days, mean weight of 1,734 g and 85.7% were on exclusive breastfeeding. Predominant breastfeeding up to 6 months of age was observed in 60.3%. We initially identified motor disorders in 42.8% decreasing to 14.3% in the final review of records, including cerebral palsy (6.9%) and retarded motor development (6.9%). Enrollment on the Kangaroo Mother Care Program, in common with data on breastfeeding and clinical outcomes were determined by gestational age and birth weight and were influenced by clinical conditions of each preterm infant. Kangaroo Mother Care proved itself a good breastfeeding instrument, but its role as an intervention for motor development must be better investigated.

Hepatocellular Carcinoma in Hereditary Tyrosinemia Type I Despite 2-(2 Nitro-4-3 Trifluoro- Methylbenzoyl)-1, 3-Cyclohexanedione Treatment

Hepatocellular Carcinoma in Hereditary Tyrosinemia Type I Despite 2-(2 Nitro-4-3 Trifluoro- Methylbenzoyl)-1, 3-Cyclohexanedione Treatment

Lúpus neonatal e Lúpus Eritematoso Cutâneo Subagudo na infância

O lúpus eritematoso (LE) raramente ocorre na infância e, quando aparece, manifesta-se, mais freqüentemente, sob a forma de lúpus eritematoso sistêmico. A forma restrita à pele é extremamente incomum e pode apresentar-se nas variantes lúpus eritematoso discóide, lúpus eritematoso cutâneo subagudo (LECS) e lúpus neonatal (LN). Em razão dessa raridade e com vistas aos dados reportados na literatura, apresentamos dois casos de lúpus cutâneo em crianças. O caso um refere-se a um paciente masculino, branco, cinco anos, com lesões de pele eritematoso-descamativas, alopecia, artralgia e dificuldade para deambular. O exame neurológico evidenciou paraparesia espástica com sinais de liberação piramidal. O caso dois refere-se a um lactente de um mês, masculino, filho de mãe com LECS, com lesões de pele eritematoso-ovalares presentes ao nascimento, além de anemia, plaquetopenia e evidência ecocardiográfica de canal arterial pérvio. O diagnóstico de LN foi baseado nos dados clínicos, laboratoriais, histopatológico e antecedentes familiares. Concluímos com a apresentação desses casos que, em razão da raridade do lúpus cutâneo na infância, diante de casos suspeitos, deve-se estar atento para o diagnóstico precoce e acompanhamento dos pacientes, de modo a prevenir possíveis complicações e sistematização da doença.

An infant with an intradural lipoma of the cervical spine extending into the posterior fossa

Background. Intradural lipomas of the cervical spine are very rare. These tumours show no association with spinal dysraphism. We describe an infant with cervical spinal cord lipoma. Surgical decompression of the cord resolved all neurologic deficits. Case description. An 8 month old female infant presented with retarded development of motor function in the limbs, in addition to dysphagia. Computed tomography identified a tumour of fat density that extended from the medulla to C7. Magnetic resonance imaging showed hyperintensity on both T1- and T2-weighted images. A fat-suppression sequence demonstrated an area of signal enhancement in the dorsal portion of the tumour following administration of gadolinium. The adjacent spinal cord was normal. Partial removal of the tumour was performed together with decompressive laminoplasty. The enhancing region proved to be fibrous tissue. Motor development resumed in the week following operation. Conclusion. Retarded motor development was the main manifestation of this infant’s rare spinal tumour. Neuroimaging was of considerable diagnostic value; in particular, fat-suppression magnetic resonance imaging demonstrated details of the tumour and surrounding structures. Decompressive laminoplasty and laminectomy with partial removal of the tumour was effective in reversing clinical deficits.

Development of early motor skills and language in children at risk for familial dyslexia.

Differences in motor development and the relationship between motor and language development were studied in 88 children with familial risk for dyslexia (43 females, 45 males; at-risk group) and 88 children without familial risk for dyslexia (35 females, 53 females; control group; n=176) during the first two years of life. A structured parental questionnaire was used to assess motor development. Expressive language skills were assessed at the age of 18 months with the Reynell Developmental Language Scales and at 18 and 24 months with the MacArthur Communicative Development Inventories. At group level, the motor development of children in both the at-risk and control groups was similar. However, motor development showed a different pattern in these groups. Cluster analyses revealed three clusters in the control group: 'fast motor development', 'slow fine motor development', and 'slow gross motor development'. In the at-risk group, only two clusters were found: 'slow motor development' and 'fast motor development'. A significant difference (p=0.03) was found between the clusters in the MacArthur Communicative Development Inventories. Children with familial risk for dyslexia and slow motor development had a smaller vocabulary and produced shorter sentences than the all other children. Associations between motor and language difficulties are discussed.

Bones benefit from better biochemical control in type 1 glycogen storage disease

Bones benefit from better biochemical control in type 1 glycogen storage disease

Brain white-matter lesions in celiac disease: a prospective study of 75 diet-treated patients.

Celiac disease (CD), or gluten sensitivity, is considered to be a state of heightened immunologic responsiveness to ingested gluten proteins in genetically predisposed individuals. The gastrointestinal manifestation suggests a severe enteropathy of the small intestine with malabsorption, steatorrhea, and weight loss because of a deranged mucosal immune response. Neurologic complications occur, especially epilepsy, possibly associated with occipital calcifications or folate deficiency and cerebellar ataxia. There have been reports of brain white-matter lesions as an extraintestinal manifestation in Crohn disease and ulcerative colitis but not in CD. In this study, 75 diet-treated mainly pediatric patients with biopsy-proven CD underwent prospectively clinical neurologic examinations, laboratory investigations, electroencephalography, computed tomography, and magnetic resonance imaging. The age range was 2.8 to 24.2 years with a mean of 11.6 years. The mean period of gluten exposure was 2.4 years. Ten patients had neurologic findings such as febrile seizures, single generalized seizures, mild ataxia, and muscular hypotonia with retarded motor development. No folate deficiency was found. The hippocampal regions showed no abnormalities. Computed tomography did not reveal any cerebral calcifications, but magnetic resonance imaging detected unilateral and bilateral T2-hyperintensive white-matter lesions in 15 patients (20%). There was no correlation between these lesions and dietary compliance or neurologic or electroencephalographic abnormalities. The mean gluten exposure time of these patients was slightly increased (not significant). Focal white-matter lesions in the brain may represent an extraintestinal manifestation of CD. They may be ischemic in origin as a result of a vasculitis or caused by inflammatory demyelination. They seem to be more typical of pediatric CD than cerebral calcifications. Their prognostic value is unclear and needs to be elucidated in additional studies. CD should be suggested as a differential diagnosis in children with unclear white-matter lesions even without intestinal symptoms.

Clinical aspects and genetics of Prader-Willi syndrome

Prader-Willi syndrome (PWS) is considered to be a rare neurogenetic disorder, nevertheless it represents the most common syndromatic obesity. Main features are severe hypotonia in the newborn period with feeding difficulty and failure to thrive in the first few months, and improvement in later infancy. Between 1 and 6 years the development of a marked truncal obesity is observed, sometimes later on reaching a life-threatening degree. Apart from retarded motor development speech ability is also hampered due to dysfunction of oropharyngeal muscles. Moreover, intellectual impairment is observed that leads to mostly moderate learning difficulty due to deficits in short term memory and abstract thinking. The genetic background of PWS is loss of function of a paternally inherited gene cluster on chromosome 15q11.2, therefore representing a paradigm of an epigenetic phenomenon with silencing and activating of genes depending on their parental origin. Together with the Angelman-Syndrome (AS), genetically located in the same region but clinically different PWS was identified as one of the first human disorders to be caused by the mechanism of genomic imprinting. There are some different genotypes in PWS leading to a quite similar phenotype with small differences e.g. in the pigment expression. An early diagnosis is important because the neuromuscular dysfunction improves with appropriate physiotherapy. Even more, dietary programs with periodical calorie restricted meals can counteract development of morbid obesity with subsequent complications of cardiovascular disorders and diabetes. Clinical diagnosis remains difficult especially in the newborn period and is considered mostly because of the marked hypotonia. Today, the availability of molecular testing of loss of function in the paternal inherited PWS candidate gene makes a definitive diagnosis possible as a prerequisite of symptomatic therapy. One of the most recommended therapeutic interventions is the application of recombinant human growth hormone (rhGH) which has been shown to be useful for improvement of length, physical ability and favourable influence on respiratory problems by a lot of clinical studies. Early diagnosis by means of molecular methods is helpful for comprehensive genetic counseling. It may avoid unnecessary investigations like computed tomography of the brain and muscle biopsy and it enables parents and professionals to start a purposeful therapy. Although it remains a symptomatic tool, GH therapy appears to be useful for most of the patients. Considering the multimorbidity in PWS a multidisciplinary approach seems appropriate for this still mystical condition.